The invention relates to diagnosis of iron disorders.
Hemochromatosis is a common hereditary disorder that affects approximately 0.5% of persons of western European descent. In various populations, 60%-100% of cases are attributable to homozygosity for a missense mutation (cDNA nucleotide 845 G6A; C282Y) in HFE, a major histocompatibility class I gene on chromosome 6p. Some patients are compound heterozygotes for C282Y and another HFE allele (cDNA nucleotide 187 C6G; H63D), or are H63D homozygotes. However, C282Y and H63D are not known to occur on the same chromosome. Other persons with a hemochromatosis phenotype are homozygous for H63D, are heterozygous for C282Y or H63D, or are presumed to have an HFE or other mutation that is not presently detectable (wild-type; wt/wt). Regardless of HFE genotype, persons with a hemochromatosis phenotype usually have increased iron saturation of plasma transferrin, typically absorb increased quantities of iron, and often develop multisystem disease due to iron overload.